peroxisomal acyl-CoA oxidase deficiency
METABOLIC DISEASES, PAEDIATRICS
A single-enzyme disorder (OMIM:264470) resulting in increased plasma levels of very-long chain fatty acids, due to decreased or absent peroxisome acyl-CoA oxidase activity.
Clinical findings Mental retardation, leukodystrophy, seizures, mild hepatomegaly, and deafness.
Molecular pathology Defects of ACOX1, which encodes an acyl-CoA oxidase that desaturates acyl-CoAs to 2-trans-enoyl-CoAs, cause pseudoneonatal adrenoleukodystrophy.
Synonyms Pseudo-NALD, pseudoneonatal adrenoleukodystrophy, straight-chain acyl-CoA oxidase deficiency